Canonical Allele Identifier: CA257601265

Gene: CHD8

Linked Data

• ClinVar Variation Id: 1187208
• ClinVar RCV Id: RCV001546570
• dbSNP Id: rs116406114
• gnomAD v2: 14-21869358-T-C
• gnomAD v3: 14-21401199-T-C
• gnomAD v4: 14-21401199-T-C
• MyVariant Identifiers: chr14:g.21869358T>C (hg19) ; chr14:g.21401199T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21401199T>C , CM000676.2:g.21401199T>C	GRCh38
NC_000014.8:g.21869358T>C , CM000676.1:g.21869358T>C	GRCh37
NC_000014.7:g.20939198T>C	NCBI36
NG_021249.1:g.41100A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3337-128A>G	ENSP00000406288.3:n.3337-128A>G
ENST00000555935.2:c.1850-128A>G
ENST00000555962.6:c.264+758A>G	ENSP00000495174.1:n.264+758A>G
ENST00000557364.6:c.4174-128A>G	ENSP00000451601.1:n.4174-128A>G
ENST00000643469.1:c.4174-128A>G	ENSP00000495070.1:n.4174-128A>G
ENST00000645206.1:n.2688-128A>G
ENST00000645929.1:c.3337-128A>G	ENSP00000494402.1:n.3337-128A>G
ENST00000646340.1:c.4180-128A>G	ENSP00000496730.1:n.4180-128A>G
ENST00000646558.1:n.728-128A>G
ENST00000646647.2:c.4174-128A>G MANE Select	ENSP00000495240.1:n.4174-128A>G
ENST00000399982.6:c.4174-128A>G	ENSP00000382863.2:n.4174-128A>G
ENST00000430710.7:c.3337-128A>G	ENSP00000406288.3:n.3337-128A>G
ENST00000555935.1:c.1850-128A>G
ENST00000555962.5:n.524+758A>G
ENST00000557364.5:c.4174-128A>G	ENSP00000451601.1:n.4174-128A>G
NM_001170629.1:c.4174-128A>G	NP_001164100.1:n.4174-128A>G
NM_020920.3:c.3337-128A>G	NP_065971.2:n.3337-128A>G
NM_001170629.2:c.4174-128A>G MANE Select	NP_001164100.1:n.4174-128A>G
NM_020920.4:c.3337-128A>G	NP_065971.2:n.3337-128A>G